06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFS6
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS6.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFS6
Rebecca Foulger Source NHS GMS was added to NDUFS6.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFS6
Rebecca Foulger reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFS6
Tracy Lester reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1486
NDUFS6
Sarah Leigh Marked gene: NDUFS6 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1486
NDUFS6
Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least two homozygous variants identified in two unrelated cases with abnormal, slowly drifting eye movements, rolling nystagmus, thought to indicate possible seizures, as well as overt seizures occurred on day 1 of life (PMID: 15372108). Other variants reported, but no association with epilepsy, seizures or convulsions could be found.
06 Dec 2018
Early onset or syndromic epilepsy v0.1486
NDUFS6
Sarah Leigh Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1486
NDUFS6
Sarah Leigh Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1485
NDUFS6
Sarah Leigh Publications for gene: NDUFS6 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1484
NDUFS6
Sarah Leigh Mode of inheritance for gene: NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2018
Early onset or syndromic epilepsy
NDUFS6
Zornitza Stark reviewed gene: NDUFS6
25 Jun 2018
Early onset or syndromic epilepsy
NDUFS6
Sarah Leigh Added gene to panel